syndromic intellectual disability Stimmler syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/alaninuria_with_microcephaly_dwarfism_enamel_hypoplasia_and_diabetes_mellitus_2 Orphanet:3199 MEDGEN:348505 MESH:C565968 SCTID:733072002 Stimmler syndrome OMIM:202900 UMLS:C1859965 Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. GARD:0005026 Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus MONDO:0008743 multiple congenital anomalies/dysmorphic syndrome-intellectual disability